PAX2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PAX2 wt allele is located in the vicinity of 10q24.31 and is approximately 94 kb in length. This allele, which encodes paired box protein Pax-2, plays a role in transcription during development of the central nervous system, eyes, kidney and urogenital tract. Mutations in this gene are associated with papillorenal syndrome, focal segmental glomerulosclerosis 7 and endometrial atypical hyperplasia/endometrioid intraepithelial neoplasia.

**Synonyms:** - FSGS7 - PAPRS - PAX-2 - PAX2 - Paired Box 2 wt Allele - Paired Box Gene 2 - Paired Box Homeotic Gene 2